Condition: Turcot syndrome (disorder)


rs121912965 in EPM2AIP1;MLH1 gene and Turcot syndrome (disorder) PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 11427529 2001 The interaction of DNA mismatch repair proteins with human exonuclease I.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 17440981 2007 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.

rs63750610 in MLH1 gene and Turcot syndrome (disorder) PMID 17510385 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 21404117 2011 Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 17594722 2007 Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

PMID 11726306 2001 Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 22753075 2012 Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

PMID 16083711 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

PMID 23403630 2013 Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

rs1554298082 in PMS2 gene and Turcot syndrome (disorder) PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 9419979 1997 Drastic genetic instability of tumors and normal tissues in Turcot syndrome.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 26691941 2016 [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

PMID 28218421 2017 Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

PMID 26116798 2015 Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.